Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26390 | 79393;79394;79395 | chr2:178566964;178566963;178566962 | chr2:179431691;179431690;179431689 |
| N2AB | 24749 | 74470;74471;74472 | chr2:178566964;178566963;178566962 | chr2:179431691;179431690;179431689 |
| N2A | 23822 | 71689;71690;71691 | chr2:178566964;178566963;178566962 | chr2:179431691;179431690;179431689 |
| N2B | 17325 | 52198;52199;52200 | chr2:178566964;178566963;178566962 | chr2:179431691;179431690;179431689 |
| Novex-1 | 17450 | 52573;52574;52575 | chr2:178566964;178566963;178566962 | chr2:179431691;179431690;179431689 |
| Novex-2 | 17517 | 52774;52775;52776 | chr2:178566964;178566963;178566962 | chr2:179431691;179431690;179431689 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | rs771933950  |
-2.687 | 1.0 | D | 0.829 | 0.704 | 0.799015929191 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.45E-05 | 0 |
| P/T | rs771933950 |
-2.687 | 1.0 | D | 0.829 | 0.704 | 0.799015929191 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs771933950 |
-2.687 | 1.0 | D | 0.829 | 0.704 | 0.799015929191 | gnomAD-4.0.0 | 1.28157E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.91503E-05 | 0 | 5.69152E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.582 | likely_pathogenic | 0.58 | pathogenic | -2.36 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.535915215 | None | None | N |
| P/C | 0.8275 | likely_pathogenic | 0.8326 | pathogenic | -2.193 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/D | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -3.359 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/E | 0.9965 | likely_pathogenic | 0.9961 | pathogenic | -3.144 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/F | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.9731 | likely_pathogenic | 0.9691 | pathogenic | -2.872 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/H | 0.9956 | likely_pathogenic | 0.9955 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/I | 0.9457 | likely_pathogenic | 0.949 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/L | 0.8754 | likely_pathogenic | 0.8825 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.571363256 | None | None | N |
| P/M | 0.9771 | likely_pathogenic | 0.9789 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/N | 0.9971 | likely_pathogenic | 0.9975 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/Q | 0.9906 | likely_pathogenic | 0.9895 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.584493988 | None | None | N |
| P/R | 0.9931 | likely_pathogenic | 0.9917 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.583987009 | None | None | N |
| P/S | 0.943 | likely_pathogenic | 0.9392 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.572884193 | None | None | N |
| P/T | 0.9108 | likely_pathogenic | 0.9155 | pathogenic | -2.578 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.58348003 | None | None | N |
| P/V | 0.7947 | likely_pathogenic | 0.8001 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.